Variant position: 110 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 284 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human AHYVEAEKLRGRPLGAVGKY RVRRKFPLPRTIWDGEETSYC
Gorilla AHYVEAEKLRGRPLGAVGKY RVRRKFPLPRTIWDGEETSYC
Mouse AHYVEAEKLRGRPLGAVGKY RVRRKFPLPRTIWDGEETSYC
Xenopus laevis AHYVEAEKLRGRPLGAVGKY RVRRKFPLPRTIWDGEETSYC
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.
Ruf R.G.; Xu P.-X.; Silvius D.; Otto E.A.; Beekmann F.; Muerb U.T.; Kumar S.; Neuhaus T.J.; Kemper M.J.; Raymond R.M. Jr.; Brophy P.D.; Berkman J.; Gattas M.; Hyland V.; Ruf E.-M.; Schwartz C.; Chang E.H.; Smith R.J.H.; Stratakis C.A.; Weil D.; Petit C.; Hildebrandt F.;
Proc. Natl. Acad. Sci. U.S.A. 101:8090-8095(2004)
Cited for: VARIANTS BOS3 TRP-110 AND CYS-129; VARIANT DFNA23 GLU-133 DEL; CHARACTERIZATION OF VARIANTS BOS3 TRP-110 AND CYS-129; CHARACTERIZATION OF VARIANT DFNA23 GLU-133 DEL; FUNCTION; INTERACTION WITH EYA1; POSSIBLE INVOLVEMENT IN BOR;
SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR.
Kochhar A.; Orten D.J.; Sorensen J.L.; Fischer S.M.; Cremers C.W.; Kimberling W.J.; Smith R.J.;
Hum. Mutat. 29:565-565(2008)
Cited for: VARIANTS BOS3 GLU-17; PRO-73; GLY-106; GLN-110; TRP-110; CYS-112 AND CYS-129;
Biochemical and functional characterization of six SIX1 Branchio-oto-renal syndrome mutations.
Patrick A.N.; Schiemann B.J.; Yang K.; Zhao R.; Ford H.L.;
J. Biol. Chem. 284:20781-20790(2009)
Cited for: CHARACTERIZATION OF VARIANTS BOS3 GLU-17; GLY-106; TRP-110 AND CYS-112; CHARACTERIZATION OF VARIANT DFNA23 GLU-133 DEL; FUNCTION; DNA-BINDING; SUBCELLULAR LOCATION; INTERACTION WITH EYA1 AND EYA2; POSSIBLE INVOLVEMENT IN BOR;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.